Blood Pressure & Hypertension

Intronic NEDD4L variant tagging isoforms with differing ENaC ubiquitination capacity; the G allele associates with reduced blood pressure response to thiazide diuretics and salt-sensitive hypertension risk

Intronic variant in the sodium bicarbonate cotransporter gene strongly associated with salt-sensitive blood pressure through enhanced renal sodium reabsorption

Missense variant in CTH (cystathionine gamma-lyase) that impairs transsulfuration; TT homozygotes have significantly elevated plasma homocysteine and reduced hydrogen sulfide bioavailability, with a ~3-fold higher risk of fatal myocardial infarction in women

5' UTR variant in phosphodiesterase 3A that may alter PDE3A expression, affecting cAMP metabolism in vascular smooth muscle and cardiac tissue

Intronic PLCE1 variant where the A allele raises systolic blood pressure and confers genome-wide significant risk for preeclampsia and pregnancy-induced hypertension through impaired podocyte calcium signaling and vascular pressure regulation

Regulatory variant near the NPR3 transcription start site that reduces natriuretic peptide clearance receptor expression in vascular smooth muscle and endothelial cells, raising blood pressure by impairing ANP and BNP removal from circulation

Intronic variant in NEDD4L associated with reading ability and dyslexia susceptibility, within a gene that regulates ENaC sodium channel expression and blood pressure

Intronic variant in the ATP2B1 calcium pump gene; the common G allele reduces PMCA1 expression in vascular tissue, impairing calcium efflux and raising blood pressure — one of the most replicated blood pressure GWAS loci across Asian and European populations

Intronic SGK1 variant associated with depression susceptibility in coronary heart disease patients, linking glucocorticoid-regulated kinase signaling to the cardiovascular-psychiatric comorbidity axis

Promoter variant in aldosterone synthase increasing CYP11B2 transcription, associated with elevated aldosterone, higher blood pressure, and sodium-sensitive left ventricular hypertrophy

Intronic regulatory variant in angiotensinogen intron I that enhances HNF3β transcription factor binding, increases AGT expression, and raises blood pressure by 12–13 mmHg in transgenic models

Intronic EDN1 variant modulating endothelin-1 expression; the T allele associates with elevated ET-1 levels, increased risk of persistent pulmonary hypertension of the newborn, aneurysm rebleeding after subarachnoid hemorrhage, and altered nitric oxide metabolism in women

Missense variant in NPR3 clearance receptor disrupting Gi protein coupling, independently associated with diastolic dysfunction (OR 1.94) and reduced salt-sensitivity of blood pressure

Intronic regulatory variant near the PMCA1 calcium pump gene, one of the most replicated blood pressure GWAS hits; the common A allele reduces calcium efflux efficiency in vascular cells, raising blood pressure ~1 mmHg per allele

Intronic variant in the SPAK kinase gene that has been studied for association with blood pressure regulation through the WNK-SPAK-NCC sodium reabsorption axis

Intronic STK39 variant that increases SPAK kinase expression, enhancing phosphorylation of renal sodium cotransporters NCC and NKCC2 and raising blood pressure through excess sodium reabsorption.

Intronic variant in beta-adducin modulating renal Na+/K+-ATPase trafficking and sodium reabsorption, associated with hypertension susceptibility in a Japanese GWAS

Intronic NEDD4L variant that tags reduced ubiquitin-ligase activity toward the epithelial sodium channel, increasing renal sodium reabsorption and raising diastolic blood pressure

Intronic NR3C2 variant associated with salt sensitivity of blood pressure and 14-year hypertension incidence, likely modulating mineralocorticoid receptor expression in the distal nephron.

NOS3 promoter variant that reduces eNOS expression and increases hypertension risk by disrupting an ETS transcription factor binding site

Missense variant in angiotensinogen that increases AGT protein levels and raises risk of hypertension, myocardial infarction, and stroke, with stronger effects in Asian populations

Intronic CTH variant where GG homozygotes show significantly elevated preeclampsia risk; the G allele tags reduced placental H₂S production and impaired vascular adaptation during pregnancy, with no significant association with essential hypertension

Alpha-adducin missense variant that increases renal tubular sodium reabsorption by stabilizing Na+/K+-ATPase at the cell surface, causing salt-sensitive blood pressure elevation and impaired endothelial vasodilation in Trp allele carriers

Promoter variant that increases angiotensinogen gene transcription, raising plasma AGT levels and contributing to hypertension risk

3'UTR variant that disrupts miR-425 binding, increasing atrial natriuretic peptide levels and conferring cardioprotection against hypertension and metabolic syndrome

3' UTR variant in angiotensin II type 1 receptor affecting blood pressure regulation and ARB drug response

3' UTR variant in the endothelin receptor type A gene associated with ambulatory blood pressure variation and cardiovascular outcomes through altered EDNRA expression

Intronic NEDD4L variant influencing ubiquitin ligase isoform expression and salt-sensitive blood pressure regulation via the ENaC pathway

Regulatory variant upstream of the endothelin receptor type A gene that reduces EDNRA transcription, impairing endothelin-1-mediated vasoconstriction and increasing susceptibility to intracranial aneurysm

Intronic WNK1 variant where the G allele is associated with increased essential hypertension risk while the minor T allele is protective; WNK1 is the master kinase controlling renal sodium-chloride reabsorption through the NCC cotransporter

Intronic variant in the renal sodium-bicarbonate cotransporter gene SLC4A5 associated with salt sensitivity of blood pressure; A allele carriers show amplified blood pressure responses to high dietary sodium.

Intronic NEDD4L variant tagging the haplotype block that modulates ENaC sodium channel ubiquitination and blood pressure regulation

Intronic/3'UTR GCH1 variant tagging reduced tetrahydrobiopterin (BH4) synthesis capacity; the A allele associates with endothelial dysfunction, oxidative stress, and impaired nitric oxide production, with sex-specific effects on blood pressure